A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119458



Internal ID19283897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51936538..51936631hg38UCSC Ensembl
Outerchr17:50013898..50013991hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959901
SamplesKWS1
Known GenesCA10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119458
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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